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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

AUSTRIA

WIEN
WIEN

Pilot-study: "serum neurofilament light chains as a marker for neurological manifestation in fabry disease"
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Neurologie

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

FRANCE

ILE-DE-FRANCE
GARCHES

Understanding the pathophysiology of Fabry disease
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Génétique Médicale - Centre de référence Maladies Rares

GERMANY

Bayern
WÜRZBURG

MALTA-FABRY: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg

GERMANY

Bayern
WÜRZBURG

Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Fabry-Zentrum Würzburg

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ITALY

LOMBARDIA
SAN DONATO MILANESE

Effect of Migalastat on Cardiac Involvement in Fabry Disease
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale

ITALY

SICILIA
PALERMO

Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze

NETHERLANDS

Noord-Holland
AMSTERDAM

Overcoming the negative effect of anti αGAL antibody formation in Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Lipid profiles in Niemann Pick disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

NORWAY

Østlandet
OSLO

Endring i helserelatert livskvalitet over tid hos individer med Fabry sykdom
Oslo University Hospital, Ullevaal
NKSD - Nasjonal kompetansetjeneste for sjeldne diagnoser

PORTUGAL

NORTE
PORTO

Funded by an IRDiRC memberFabry disease- an immunological study
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPAIN

Galicia
VIGO

Funded by an IRDiRC memberStudy of immunitary system dysfunction in Fabry Disease
Hospital Álvaro Cunqueiro
Grupo de Patología neonatal, Pediatría, Enfermedades Raras

UNITED KINGDOM

Greater Manchester
MANCHESTER

Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (T1)
Central Manchester University Hospitals NHS Foundation Trust
Manchester University Hospitals NHS Foundation Trust

PORTUGAL

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SWEDEN

Region Västerbotten
UMEÅ

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

ILE-DE-FRANCE
PARIS

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

NORWAY

Østlandet
OSLO

Nordic HCM-register
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

SWEDEN

Region Stockholm
SOLNA

Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects